Open AccessAndrogen Insensitivity Syndrome (AIS): A Case History
Author(s) -
Hazera Khatun,
Tarannum Rahman
Publication year - 2015
Publication title -
ibrahim cardiac medical journal
Language(s) - English
Resource type - Journals
eISSN - 2223-0971
pISSN - 2223-0963
DOI - 10.3329/icmj.v4i1.52875
Subject(s) - complete androgen insensitivity syndrome , testicular feminization , androgen insensitivity syndrome , pubic hair , karyotype , inguinal hernia , medicine , androgen , androgen receptor , secondary sex characteristic , abnormality , gynecology , testosterone (patch) , girl , endocrinology , chromosome , biology , hernia , genetics , hormone , surgery , gene , cancer , prostate cancer , psychiatry
Androgen Insensitivity Syndrome (AIS) is an inherited X-linked recessive disease with a mutation in the Androgen Receptor (AR) gene resulting in - functioning of Y sex chromosome and abnormality on X sex chromosome, where affected individuals have male chromosomes and male gonads with complete or partial feminization of the external genitals. Recently a case of complete Androgen Insensitivity Syndrome (CAIS) is reported at Shaheed Suhrawardy Medical College, Dhaka. A 15 years old school girl was admitted with primary amenorrhea with bilateral inguinal hernia. Diagnosis of complete AIS is confirmed by discovering an adult male testosterone level, 46, XY karyotype, absence of axillary and pubic hair and a shallow vagina, with no cervix or uterus.
Ibrahim Cardiac Med J 2014; 4(1): 33-37